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Deciphering metabolic shifts in Gaucher disease type 1: a multi-omics study.
J Mol Med (Berl)
December 2024
Department of Metabolic Biochemistry, Referral Center for Lysosomal Diseases, Normandie Univ, UNIROUEN, CHU Rouen, INSERM U1245, Filière G2M, 76000, Rouen, France.
Gaucher disease (GD), an autosomal recessive lysosomal disorder, primarily affects the lysosomal enzyme β-glucocerebrosidase (GCase), leading to glucosylceramide accumulation in lysosomes. GD presents a wide spectrum of clinical manifestations. This study deploys immune-based proteomics and mass spectrometry-based metabolomics technologies to comprehensively investigate the biochemical landscape in 43 deeply phenotyped type 1 GD patients compared to 59 controls.
View Article and Find Full Text PDFCurrent opinion on pluripotent stem cell technology in Gaucher's disease: challenges and future prospects.
Cytotechnology
February 2025
Department of Pharmacology, School of Health Sciences, Central University of Punjab, Bathinda, 151001 India.
Gaucher's disease (GD) is a rare autosomal recessive genetic disorder caused by mutations in the gene. Mutations in the gene lead to the deficiency of glucocerebrosidase, an enzyme that helps in the breakdown of glucosylceramide (GlcCer) into ceramide and glucose. The lack of the enzyme causes GlcCer accumulation in macrophages, resulting in various phenotypic characteristics of GD.
View Article and Find Full Text PDFLysosphingolipid Quantitation in Plasma and Dried-Blood Spots Using Targeted High-Resolution Mass Spectrometry.
J Clin Lab Anal
December 2024
Department of Metabolic Biochemistry, Referral Center for Lysosomal Diseases, Normandie Univ, UNIROUEN, AIMS, SysMedLab, CHU Rouen, Rouen, France.
Background: Sphingolipidoses are rare inherited metabolic diseases belonging to lysosomal diseases. Early and accurate diagnosis is crucial for effective management and treatment. In this study, we aimed to develop a robust method to accelerate the diagnosis of these sphingolipidoses using dried blood spots and plasma.
View Article and Find Full Text PDFBackground: Lysosomal storage diseases (LSDs) can be treated with intravenous enzyme replacement therapy (ERT). ERT is being administered either in specialized clinics or in the home care setting. Studies indicate that home-based ERT can be considered safe and positively effects patient reported outcomes.
View Article and Find Full Text PDFA natural history study of pediatric patients with early onset of GM1 gangliosidosis, GM2 gangliosidoses, or gaucher disease type 2 (RETRIEVE).
Orphanet J Rare Dis
December 2024
Division of Metabolism and Children's Research Center, Reference Center for Inborn Errors of Metabolism, University Children's Hospital of Zurich, University of Zurich, Zurich, Switzerland.
Article Synopsis
- RETRIEVE is a natural history study focused on the survival and disease progression of early-onset GM1, GM2, and type 2 Gaucher disease (GD2).
- The study gathered data from 185 patients retrospectively and 40 patients prospectively, revealing varying median survival rates: GM1 (19 months), GM2 (44 months), and GD2 (14 months).
- The findings noted that hypotonia was widespread among GM1 patients (94.4%), with additional symptoms like strabismus and splenomegaly specifically observed in GD2 patients, confirming known patterns of these rare lysosomal storage disorders.
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